基因突变阴性儿童原发性血小板增多症1例并文献复习

Gene mutation-negative essential thrombocytosis in children:report of 1 case and review of literature

目的探讨基因突变阴性的儿童原发性血小板增多症(ET)的临床特征和诊治方法。方法收集中国医学科学院血液病医院收治的1例突变基因阴性儿童ET的临床资料,并复习相关文献。结果该患儿以鼻出血为主要临床症状,完善骨髓穿刺、基因检测等诊断为儿童ET(基因突变阴性),经羟基脲治疗后血小板计数下降,临床症状改善。结论儿童ET发病率低,基因突变阴性儿童ET发生频率文献报道不一,需扩大样本长期随访研究。

Objective To investigate the clinical characteristics,diagnosis and treatment methods of children with gene mutation-negative essential thrombocytosis(ET).Methods The clinical data of a child with gene mutation-negative ET in the Blood Diseases Hospital of Chinese Academy of Medical Sciences were collected,and the related literature was reviewed.Results The epistaxis was the main clinical symptom of this child.He was diagnosed as ET(gene mutation-negative)by bone marrow aspiration and gene detection.After hydroxyurea treatment,the platelet count increased and the clinical symptoms were improved.Conclusions The incidence rate of ET in children is low,and the frequency of gene mutation-negative ET in children reported in the literature is different.The large number of samples and long-term follow-up studies are needed.